Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

Hum Mutat. 2012 Jun;33(6):960-2. doi: 10.1002/humu.22071. Epub 2012 Apr 16.


Hereditary forms of cataract are genetically heterogeneous. Mutations in crystallin genes account for most Mendelian forms, but identification of other cataract genes has provided insights into additional molecular mechanisms that control lens transparency. In a multiplex consanguineous family with isolated congenital cataract, we identified a novel autosomal recessive cataract locus on 7q33-q36.1. Exome sequencing revealed a splice-site mutation in AGK, encoding acylglycerol kinase, which we confirm led to aberrant splicing and predicted premature truncation. This is the first mutation in this lipid metabolism gene to be implicated in the development of isolated cataract, although it remains to be seen if the mechanism involves perturbation of lenticular lipid composition or aberrant signaling during lens morphogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Base Sequence
  • Cataract / genetics*
  • Child
  • Chromosomes, Human, Pair 7
  • Consanguinity
  • Exons
  • Female
  • Genes, Recessive*
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • RNA Splice Sites


  • RNA Splice Sites
  • Phosphotransferases (Alcohol Group Acceptor)
  • acylglycerol kinase